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Updated: May 8, 2026

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
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Published on: February 28, 2019

Molecular Profiling of Olfactory Neuroblastoma Using the AACR Project GENIE Database.

Beau Hsia1, Roshan Dongre2, Aya Erquizi3

  • 1Department of Otolaryngology, Creighton University School of Medicine, Phoenix, Arizona, United States.

Journal of Neurological Surgery. Part B, Skull Base
|May 7, 2026
PubMed
Summary
This summary is machine-generated.

Olfactory neuroblastoma (ONB) genomic analysis reveals frequent mutations in TP53 and FRK genes. These findings offer potential therapeutic targets for this rare head and neck cancer.

Keywords:
AACR Project GENIEFRKTP53biomarker discoverycancer genomicsolfactory neuroblastomasomatic mutationstargeted therapy

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Area of Science:

  • Oncology
  • Genomics
  • Head and Neck Cancer

Background:

  • Olfactory neuroblastoma (ONB) is a rare cancer originating in the nasal cavity.
  • Limited systemic therapeutic options exist due to an incomplete understanding of its genomic landscape.

Purpose of the Study:

  • To analyze the genomic profile of ONB using a patient-level genomic repository.
  • To identify potential therapeutic targets and improve disease modeling for ONB.

Main Methods:

  • Retrospective genomic analysis of ONB cases.
  • Utilized the American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) database.
  • Analyzed recurrent somatic mutations and their clinical correlations (p < 0.05).

Main Results:

  • High prevalence of mutations in TP53 (tumor protein p53) and FRK (fibroblast growth factor receptor kinase) genes.
  • Moderate prevalence of mutations in NOTCH3, SMARCA4, RET, and CTCF genes.
  • Distinct mutation patterns observed between pediatric and adult ONB; specific mutations enriched in metastatic tumors.

Conclusions:

  • Provides a comprehensive genomic profile for ONB.
  • Identifies TP53 and FRK as key mutated genes, suggesting potential novel therapeutic targets.
  • Offers insights for precision medicine and targeted therapies based on distinct clinical presentations and tumor types.